Presumptive long arm deletion of chromosome 8: a new syndrome?

Autor: Taysi, K., Noetzel, M. J., Strauss, A. W.
Zdroj: Human Genetics; September 1979, Vol. 51 Issue: 1 p49-53, 5p
Abstrakt: This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.
Databáze: Supplemental Index